Literature DB >> 18179648

Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy.

P Saccucci1, E Del Duca, N Rapini, A Verrotti, S Piccinini, A Maccari, G Canu, F Angelini, L Fontana, C Giannini, F Chiarelli, M L Manca Bitti, N Bottini.   

Abstract

The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.

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Year:  2008        PMID: 18179648     DOI: 10.1111/j.1399-0039.2007.00987.x

Source DB:  PubMed          Journal:  Tissue Antigens        ISSN: 0001-2815


  10 in total

1.  The association between the PTPN22 1858C>T variant and type 1 diabetes depends on HLA risk and GAD65 autoantibodies.

Authors:  M Maziarz; M Janer; J C Roach; W Hagopian; J P Palmer; K Deutsch; C B Sanjeevi; I Kockum; N Breslow; A Lernmark
Journal:  Genes Immun       Date:  2010-05-06       Impact factor: 2.676

2.  Role of the C1858T polymorphism of protein tyrosine phosphatase non-receptor type 22 (PTPN22) in children and adolescents with type 1 diabetes.

Authors:  A Blasetti; C Di Giulio; S Tumini; M Provenzano; D Rapino; L Comegna; G Prezioso; R Chiuri; S Franchini; F Chiarelli; L Stuppia
Journal:  Pharmacogenomics J       Date:  2016-02-23       Impact factor: 3.550

Review 3.  Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases.

Authors:  Stephanie M Stanford; Tomas M Mustelin; Nunzio Bottini
Journal:  Semin Immunopathol       Date:  2010-03-04       Impact factor: 9.623

4.  Study of factors influencing susceptibility and age at onset of type 1 diabetes: A review of data from Continental Italy and Sardinia.

Authors:  Fulvia Gloria-Bottini; Patrizia Saccucci; Gian Franco Meloni; Maria Luisa Manca-Bitti; Luca Coppeta; Anna Neri; Andrea Magrini; Bottini Egidio
Journal:  World J Diabetes       Date:  2014-08-15

5.  PTPN22 1858C>T (R620W) functional polymorphism and human longevity.

Authors:  Valerio Napolioni; Annalia Natali; Patrizia Saccucci; Nazzareno Lucarini
Journal:  Mol Biol Rep       Date:  2010-11-27       Impact factor: 2.316

6.  Dissecting the role of the FOXP3 gene in the joint genetic susceptibility to autoimmune thyroiditis and diabetes: a genetic and functional analysis.

Authors:  Cheuk Wun Li; Erlinda Concepcion; Yaron Tomer
Journal:  Gene       Date:  2014-12-03       Impact factor: 3.688

Review 7.  Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.

Authors:  Amanda Huber; Francesca Menconi; Sarah Corathers; Eric M Jacobson; Yaron Tomer
Journal:  Endocr Rev       Date:  2008-09-05       Impact factor: 19.871

8.  Improving power of genome-wide association studies with weighted false discovery rate control and prioritized subset analysis.

Authors:  Wan-Yu Lin; Wen-Chung Lee
Journal:  PLoS One       Date:  2012-04-09       Impact factor: 3.240

9.  High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility.

Authors:  Adel M Al-Awadhi; Mohammad Z Haider; Jalaja Sukumaran; Sowmya Balakrishnan
Journal:  BMC Rheumatol       Date:  2018-03-16

10.  The role of PTPN22 C1858T gene polymorphism in diabetes mellitus type 1: first evaluation in Greek children and adolescents.

Authors:  Styliani Giza; Antonios Goulas; Emmanouela Gbandi; Smaragda Effraimidou; Efimia Papadopoulou-Alataki; Maria Eboriadou; Assimina Galli-Tsinopoulou
Journal:  Biomed Res Int       Date:  2013-07-15       Impact factor: 3.411

  10 in total

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